Varaico: Literature-Extracted Genetic Variants

DSC2

480 papers

RefSeq Summary

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmoso...

Pfam Domains

Cadherinaa 1–91UCSCCadherin domain

Cadherin_proaa 30–113UCSCCadherin prodomain like

Cadherinaa 105–203UCSCCadherin domain

Cadherinaa 217–320UCSCCadherin domain

Cadherinaa 333–425UCSCCadherin domain

CADH_Y-type_LIRaa 699–756UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

desmocollin 2

HGNC Alias Symbol

CDHF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_024422.6

p.V816M

c.2446G>A

Surrounding Variants

2 papers

NM_024422.6

p.G812*

c.2434G>T

2 papers

NM_024422.6

p.G811*

c.2431G>T

1 paper

NM_024422.6

p.Y821*

c.2463C>G

1 paper

NM_024422.6

p.Y821*

c.2463C>A

5 papers

NM_024422.6

p.S824L

c.2471C>T

1 paper

NM_024422.6

p.T805I

c.2414C>T

1 paper

NM_024422.6

p.H803N

c.2407C>A

1 paper

NM_024422.6

p.F829fs

c.2485_2486fs

1 paper

NM_024422.6

p.H802N

c.2404C>A

1 paper

NM_024422.6

p.T830P

c.2488A>C

1 paper

NM_024422.6

p.F829delFs

c.2487delA

1 paper

NM_024422.6

p.S828_T830delFs

c.2483_2489del7